The Test Sample
What is being tested?
Porphyrins are a group of compounds defined by their chemical structure. Most porphyrin tests detect and measure the by-products of heme synthesis. Heme is an iron-containing pigment that is a necessary component of hemoglobin and a number of other proteins. The synthesis of heme is a step-by-step process that requires the sequential action of eight different enzymes. If there is a deficiency in one of these enzymes, the process is impeded and intermediate, often toxic precursor porphyrins such as uroporphyrin, coproporphyrin, and protoporphyrin build up in the body's fluids and tissues. The precursors that accumulate depend on which enzyme is deficient.
Porphyrin tests are used to help diagnose and monitor a group of disorders called porphyrias. There are several types of porphyrias, and each one is associated with a different enzyme deficiency. Most porphyrias are inherited, the result of a gene mutation. They may be classified according to the signs and symptoms of the disease as neurological, cutaneous, or both.
The porphyrias that cause neurological symptoms present with acute attacks lasting days or weeks. Signs and symptoms during the attack include abdominal pain, constipation, confusion, hallucinations, and/or seizures. There are four neurologic porphyrias: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and the very rare ALA dehydratase deficiency porphyria (ADP). Some cases of VP and HCP may also have skin-related symptoms.
The cutaneous porphyrias are associated with photosensitivity that causes redness, swelling, and a burning sensation, blistering, skin thickening, hyperpigmentation, and/or scarring. There are three cutaneous porphyrias: porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), and congenital erythropoietic porphyria (CEP). For more information about each disease, see the article on Porphyria.
To diagnose porphyrias, clinical laboratories measure porphyrins and their precursors in urine, blood, and/or stool. Testing may include measurement of one or more of the following:
- Porphobilinogen (PBG), a porphyrin precursor, in urine
- Delta-aminolevulinic acid (ALA), another porphyrin precursor, in urine
- Porphyrins (uroporphyrin, coproporphyrin, and protoporphyrin) in urine, blood, or stool
Specialized laboratories may offer testing for one or more of the affected enzymes. The most commonly measured enzyme is porphobilinogen deaminase (PBG-D) in red blood cells, which tests for acute intermittent porphyria. A few laboratories offer genetic testing for specific gene mutations that cause one of the porphyrias, but this type of testing is not widely available.
How is the sample collected for testing?
The sample type depends on the porphyrin tests ordered by the doctor. It may include one or more of the following:
NOTE: If undergoing medical tests makes you or someone you care for anxious, embarrassed, or even difficult to manage, you might consider reading one or more of the following articles: Coping with Test Pain, Discomfort, and Anxiety, Tips on Blood Testing, Tips to Help Children through Their Medical Tests, and Tips to Help the Elderly through Their Medical Tests.
Another article, Follow That Sample, provides a glimpse at the collection and processing of a blood sample and throat culture.
Is any test preparation needed to ensure the quality of the sample?
If a neurologic porphyria is suspected, the sample should be collected during an acute attack.